Full data view for gene EPHA2

Information The variants shown are described using the NM_004431.3 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.86-9C>T r.(=) p.(=) Unknown - likely benign g.16477467G>A g.16150972G>A EPHA2(NM_004431.4):c.86-9C>T - EPHA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141G>A r.(?) p.(Pro47=) Unknown - likely benign g.16477403C>T - EPHA2(NM_004431.4):c.141G>A (p.P47=) - EPHA2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174C>A r.(?) p.(Ile58=) Unknown - likely benign g.16475522G>T - EPHA2(NM_004431.4):c.174C>A (p.I58=) - EPHA2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.410G>T r.(?) p.(Arg137Leu) Unknown - VUS g.16475286C>A - EPHA2(NM_004431.5):c.410G>T (p.R137L) - EPHA2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.430A>G r.(?) p.(Thr144Ala) Unknown - VUS g.16475266T>C - EPHA2(NM_004431.4):c.430A>G (p.T144A) - EPHA2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.437C>T r.(?) p.(Ala146Val) Unknown - VUS g.16475259G>A - - - EPHA2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.453C>T r.(?) p.(Thr151=) Unknown - likely benign g.16475243G>A g.16148748G>A EPHA2(NM_004431.4):c.453C>T (p.T151=) - EPHA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.523C>T r.(?) p.(Arg175Cys) Unknown - VUS g.16475173G>A g.16148678G>A EPHA2(NM_004431.4):c.523C>T (p.R175C) - EPHA2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.570G>A r.(?) p.(Ala190=) Unknown - benign g.16475126C>T g.16148631C>T EPHA2(NM_004431.5):c.570G>A (p.A190=) - EPHA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.573G>A r.(?) p.(Leu191=) Unknown - benign g.16475123C>T g.16148628C>T EPHA2(NM_004431.5):c.573G>A (p.L191=) - EPHA2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648C>T r.(?) p.(Ala216=) Unknown - likely benign g.16475048G>A g.16148553G>A EPHA2(NM_004431.4):c.648C>T (p.A216=) - EPHA2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.649G>C r.(?) p.(Gly217Arg) Paternal (confirmed) - VUS g.16475047C>G g.16148552C>G - - EPHA2_000064 - PubMed: Fernandez-Alcalde 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam21 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
-/. - c.695A>G r.(?) p.(Asp232Gly) Unknown - benign g.16475001T>C g.16148506T>C EPHA2(NM_004431.4):c.695A>G (p.D232G) - EPHA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.714G>C r.(?) p.(Pro238=) Unknown - likely benign g.16474982C>G g.16148487C>G EPHA2(NM_004431.4):c.714G>C (p.P238=) - EPHA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.741T>C r.(?) p.(Cys247=) Unknown - likely benign g.16474955A>G g.16148460A>G EPHA2(NM_004431.4):c.741T>C (p.C247=) - EPHA2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.824-11G>A r.(=) p.(=) Parent #1 - benign g.16464936C>T g.16138441C>T - - EPHA2_000035 243 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2291804 Germline - 243/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 243 Mohammed Faruq
-/. - c.824-11G>A r.(=) p.(=) Both (homozygous) - benign g.16464936C>T g.16138441C>T - - EPHA2_000035 11 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2291804 Germline - 11/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
+?/. - c.944G>A r.(?) p.(Arg315Gln) Unknown - likely pathogenic g.16464805C>T g.16138310C>T EPHA2 (NM_004431.3):c.944G>A(p.R315Q); MYOC (NM_000261.1):c.1432G>T(p.D478Y) - EPHA2_000058 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 133 - - - DNA SEQ-NG-I blood - ? WHP33 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+?/. - c.983C>A r.(?) p.(Pro328His) Unknown - likely pathogenic g.16464677G>T g.16138182G>T EPHA2(NM_004431.3):c.983C>A(p.P328H) - EPHA2_000057 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 170 - - - DNA SEQ-NG-I blood - ? WHP70 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
?/. - c.1048C>A r.(?) p.(Pro350Thr) Unknown - VUS g.16464612G>T g.16138117G>T EPHA2(NM_004431.4):c.1048C>A (p.P350T) - EPHA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1059_1060dup r.(?) p.(Ser354Thrfs*40) Both (homozygous) - pathogenic g.16464601_16464602dup g.16138106_16138107dup 1059_1060dupCA - EPHA2_000001 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 no family history M no - - - - - - 1 Johan den Dunnen
-?/. - c.1061G>A r.(?) p.(Ser354Asn) Unknown - likely benign g.16464599C>T g.16138104C>T EPHA2(NM_004431.4):c.1061G>A (p.S354N) - EPHA2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1069C>T r.(?) p.(Arg357Cys) Unknown - VUS g.16464591G>A g.16138096G>A EPHA2(NM_004431.4):c.1069C>T (p.R357C) - EPHA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1180C>T r.(?) p.(Arg394Cys) Unknown - VUS g.16464480G>A g.16137985G>A EPHA2(NM_004431.4):c.1180C>T (p.R394C) - EPHA2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1312+6G>C r.(=) p.(=) Unknown - likely benign g.16464342C>G - EPHA2(NM_004431.4):c.1312+6G>C - EPHA2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1314G>A r.(?) p.(Glu438=) Unknown - likely benign g.16462264C>T g.16135769C>T EPHA2(NM_004431.4):c.1314G>A (p.E438=) - EPHA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1315C>T r.(?) p.(Pro439Ser) Both (homozygous) - pathogenic (recessive) g.16462263G>A g.16135768G>A - - EPHA2_000068 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 10DG0428 PubMed: Patel 2017 family - - - - - - - - 1 Johan den Dunnen
+/. - c.1337dup r.(?) p.(Arg447Profs*7) Unknown - pathogenic g.16462243dup - EPHA2(NM_004431.4):c.1337dupG (p.R447Pfs*7) - EPHA2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1360G>A r.(?) p.(Val454Ile) Unknown - VUS g.16462218C>T - EPHA2(NM_004431.4):c.1360G>A (p.V454I) - EPHA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1362C>A r.(?) p.(Val454=) Unknown - likely benign g.16462216G>T g.16135721G>T EPHA2(NM_004431.4):c.1362C>A (p.V454=) - EPHA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1383G>A r.(?) p.(Pro461=) Unknown - likely benign g.16462195C>T g.16135700C>T EPHA2(NM_004431.4):c.1383G>A (p.P461=) - EPHA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1405T>C r.(?) p.(Tyr469His) Both (homozygous) - pathogenic (recessive) g.16462173A>G g.16135678A>G - - EPHA2_000065 - PubMed: Aldahmesh 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Cata_DGU-10;Fam20 PubMed: Aldahmesh 2012, PubMed: Khan 2015 family, 2 affected sibs (2M), unaffected heterozygous parents - yes Saudi Arabia - - - - - 2 Johan den Dunnen
?/. - c.1436C>T r.(?) p.(Ser479Phe) Unknown - VUS g.16461677G>A - EPHA2(NM_004431.4):c.1436C>T (p.S479F) - EPHA2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1512G>T r.(?) p.(=) Unknown - likely benign g.16461601C>A - EPHA2(NM_004431.5):c.1512G>T (p.(Leu504=)) - EPHA2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1532C>T r.(?) p.(Thr511Met) Unknown - likely benign g.16461581G>A g.16135086G>A EPHA2(NM_004431.4):c.1532C>T (p.T511M) - EPHA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1532C>T r.(?) p.(Thr511Met) Parent #1 - likely benign g.16461581G>A g.16135086G>A - - EPHA2_000024 24 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55747232 Germline - 24/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 24 Mohammed Faruq
-?/. - c.1532C>T r.(?) p.(Thr511Met) Both (homozygous) - likely benign g.16461581G>A g.16135086G>A - - EPHA2_000024 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55747232 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1532C>T r.(?) p.(Thr511Met) Unknown ACMG VUS g.16461581G>A g.16135086G>A - - EPHA2_000024 ACMG PM1 PM2 PP1 PP3 PP4 BS1 BS2 BP6 PubMed: Li 2019 - rs55747232 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - 4 Johan den Dunnen
+?/. - c.1543C>T r.(?) p.(Gln515Ter) Both (homozygous) - likely pathogenic (recessive) g.16461570G>A g.16135075G>A - - EPHA2_000069 ACMG PSV1, PM2 PubMed: Kessel 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT CC0000388 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
?/. - c.1552G>A r.(?) p.(Gly518Ser) Unknown - VUS g.16461561C>T g.16135066C>T EPHA2(NM_004431.4):c.1552G>A (p.G518S) - EPHA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1582+2T>G r.spl? p.? Unknown - likely pathogenic g.16461529A>C - - - EPHA2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1751C>T r.(?) p.(Pro584Leu) Unknown - likely pathogenic g.16460089G>A g.16133594G>A EPHA2 c.1751C>T, p.Pro584Leu - EPHA2_000053 heterozygous, present in two affected relatives PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 5 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1751C>T r.(?) p.(Pro584Leu) Unknown - likely pathogenic g.16460089G>A g.16133594G>A EPHA2 c.1751C>T, p.Pro584Leu - EPHA2_000053 heterozygous, present in two affected relatives PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 5 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.1751C>T r.(?) p.(Pro584Leu) Unknown - pathogenic (dominant) g.16460089G>A g.16133594G>A - - EPHA2_000053 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam28PatI PubMed: Jackson 2020 family M - United Kingdom (Great Britain) white - - - - 3 Johan den Dunnen
+/. - c.1751C>T r.(?) p.(Pro584Leu) Unknown - pathogenic (dominant) g.16460089G>A g.16133594G>A - - EPHA2_000053 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam28PatII PubMed: Jackson 2020 sib M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.1751C>T r.(?) p.(Pro584Leu) Unknown - pathogenic (dominant) g.16460089G>A g.16133594G>A - - EPHA2_000053 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam28PatIII PubMed: Jackson 2020 sib M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. - c.1776C>T r.(?) p.(His592=) Unknown - likely benign g.16460064G>A g.16133569G>A EPHA2(NM_004431.4):c.1776C>T (p.H592=) - EPHA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1813A>G r.(?) p.(Thr605Ala) Unknown - likely benign g.16460027T>C - EPHA2(NM_004431.4):c.1813A>G (p.T605A) - EPHA2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1814C>T r.(?) p.(Thr605Ile) Both (homozygous) - VUS g.16460026G>A g.16133531G>A - - EPHA2_000029 - PubMed: Chen 2017 - - Germline yes - - - - DNA SEQ - - CTRCT Fam60061 PubMed: Chen 2017 3-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives F;M - - - - - - - 7 Johan den Dunnen
?/. - c.1814C>T r.(?) p.(Thr605Ile) Both (homozygous) - VUS g.16460026G>A g.16133531G>A - - EPHA2_000029 - PubMed: Chen 2017 - - Germline yes - - - - DNA SEQ - - CTRCT Fam60157 PubMed: Chen 2017 2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M - - - - - - - 5 Johan den Dunnen
?/. - c.1844G>A r.(?) p.(Arg615Gln) Unknown - VUS g.16459996C>T g.16133501C>T EPHA2(NM_004431.4):c.1844G>A (p.R615Q) - EPHA2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1857C>T r.(?) p.(Ile619=) Unknown - likely benign g.16459983G>A - EPHA2(NM_004431.4):c.1857C>T (p.I619=) - EPHA2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1896G>A r.(?) p.(Leu632=) Unknown - likely benign g.16459832C>T g.16133337C>T EPHA2(NM_004431.4):c.1896G>A (p.L632=) - EPHA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1941G>T r.(?) p.(Thr647=) Unknown - likely benign g.16459787C>A g.16133292C>A EPHA2(NM_004431.4):c.1941G>T (p.T647=) - EPHA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1978T>G r.(?) p.(Phe660Val) Paternal (confirmed) - VUS g.16459750A>C g.16133255A>C - - EPHA2_000067 - PubMed: Ma 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam35PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents F - Australia - - - - - 1 Johan den Dunnen
-?/. - c.1983C>T r.(?) p.(Leu661=) Unknown - likely benign g.16459745G>A g.16133250G>A - - EPHA2_000063 - PubMed: Li 2019 - rs10907223 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
-?/. - c.1984G>A r.(?) p.(Gly662Ser) Unknown - likely benign g.16459744C>T - EPHA2(NM_004431.4):c.1984G>A (p.G662S) - EPHA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1986C>G r.(?) p.(Gly662=) Unknown - likely benign g.16459742G>C - EPHA2(NM_004431.4):c.1986C>G (p.G662=) - EPHA2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2007G>T r.(?) p.(Gln669His) Parent #1 - pathogenic (dominant) g.16459721C>A g.16133226C>A - - EPHA2_000066 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 14DG1568 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
-?/. - c.2094G>A r.(?) p.(Gly698=) Unknown - likely benign g.16458894C>T - EPHA2(NM_004431.4):c.2094G>A (p.G698=) - EPHA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2162G>A r.(?) p.(Arg721Gln) Unknown - VUS g.16458722C>T g.16132227C>T EPHA2(NM_004431.4):c.2162G>A (p.R721Q), EPHA2(NM_004431.5):c.2162G>A (p.(Arg721Gln)) - EPHA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2162G>A r.(?) p.(Arg721Gln) Unknown - VUS g.16458722C>T - EPHA2(NM_004431.4):c.2162G>A (p.R721Q), EPHA2(NM_004431.5):c.2162G>A (p.(Arg721Gln)) - EPHA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2169C>T r.(?) p.(Ile723=) Unknown - likely benign g.16458715G>A - EPHA2(NM_004431.4):c.2169C>T (p.I723=) - EPHA2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2239G>A r.(?) p.(Val747Ile) Parent #1 - VUS g.16458645C>T g.16132150C>T - - EPHA2_000034 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145592908 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+?/. - c.2439T>G r.(?) p.(Tyr813Ter) Unknown - likely pathogenic g.16458252A>C g.16131757A>C - - EPHA2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2581C>T r.(?) p.(Arg861Cys) Unknown - VUS g.16456809G>A - EPHA2(NM_004431.4):c.2581C>T (p.R861C) - EPHA2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2627G>A r.(?) p.(Arg876His) Parent #1 - likely benign g.16456763C>T g.16130268C>T - - EPHA2_000033 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35903225 Germline - 14/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
?/. - c.2671G>C r.(?) p.(Val891Leu) Unknown - VUS g.16456083C>G g.16129588C>G EPHA2(NM_004431.4):c.2671G>C (p.V891L) - EPHA2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2700C>G r.(?) p.(Gly900=) Unknown - likely benign g.16456054G>C - EPHA2(NM_004431.4):c.2700C>G (p.G900=) - EPHA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2800G>A r.(?) p.(Glu934Lys) Parent #1 - VUS g.16455954C>T g.16129459C>T - - EPHA2_000062 - PubMed: Li 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Pat32 PubMed: Li 2016 - - - China - - - - - 1 Johan den Dunnen
+/. - c.2803A>T r.(?) p.(Lys935Ter) Parent #1 - pathogenic g.16455951T>A g.16129456T>A - - EPHA2_000061 not specified splice variant in CRYGA PubMed: Li 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Pat3 PubMed: Li 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.2819C>T r.(?) p.(Thr940Ile) Unknown ACMG likely pathogenic (dominant) g.16455935G>A g.16129440G>A - - EPHA2_000072 ACMG PS3_sup, PS4_mod, PM1_sup, PM2_sup, PP1_strong PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat31 PubMed: Wang 2024 family F - China - - - - - 2 Johan den Dunnen
+?/. - c.2825+1G>A r.spl p.(?) Unknown - likely pathogenic g.16455928C>T g.16129433C>T c.2663+1G>A, p.(?) - EPHA2_000052 different transcript: NM_001329090.1(EPHA2):c.2663+1G>A PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood eye disease enrichment panel, see paper CCTRCT 2_IV-7 PubMed: Wang 2019 Family 2, individual IV-7 F - China - - - - - 1 LOVD
+?/. - c.2826-9G>A r.spl? p.(?) Unknown - likely pathogenic g.16451824C>T g.16125329C>T c.2826-9G-->A; p.? - EPHA2_000048 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - CTRCT6 289 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.2826-9G>A r.spl p.? Maternal (confirmed) - likely pathogenic (dominant) g.16451824C>T g.16125329C>T - - EPHA2_000048 - PubMed: Fernandez-Alcalde 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam20 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.2826-9G>A r.spl p.? Maternal (confirmed) - likely pathogenic (dominant) g.16451824C>T g.16125329C>T - - EPHA2_000048 - PubMed: Astiazaran 2018 - rs886041412 Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam6PatIII2 PubMed: Astiazaran 2018 3-generation family, 9 affected (4F, 5M) F - Mexico - - - - - 9 Johan den Dunnen
+?/. - c.2826-9G>A r.spl p.? Maternal (confirmed) - likely pathogenic (dominant) g.16451824C>T g.16125329C>T - - EPHA2_000048 - PubMed: Astiazaran 2018 - rs886041412 Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam6PatIV2 PubMed: Astiazaran 2018 son M - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.2826-9G>A r.spl p.? Maternal (confirmed) - likely pathogenic (dominant) g.16451824C>T g.16125329C>T - - EPHA2_000048 - PubMed: Astiazaran 2018 - rs886041412 Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam6PatIV3 PubMed: Astiazaran 2018 daughter F - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.2826-9G>A r.spl p.? Maternal (confirmed) - likely pathogenic (dominant) g.16451824C>T g.16125329C>T - - EPHA2_000048 - PubMed: Astiazaran 2018 - rs886041412 Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam6PatIII4 PubMed: Astiazaran 2018 brother M - Mexico - - - - - 1 Johan den Dunnen
+/. 16i c.2826-9G>A r.spl p.? Unknown - pathogenic g.16451824C>T g.16125329C>T - - EPHA2_000048 - PubMed: Liu 2023 rs886041412 rs886041412 Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam15Pat47 PubMed: Liu 2023 2-generation family, affected brother/sister, unaffected parents M - China - - - - - 2 Johan den Dunnen
+/. 16i c.2826-9G>A r.spl p.? Unknown - pathogenic (dominant) g.16451824C>T g.16125329C>T - - EPHA2_000048 - PubMed: Liu 2023 rs886041412 rs886041412 De novo - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam55Pat149 PubMed: Liu 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.2826-9G>A r.(=) p.(=) Unknown - pathogenic g.16451824C>T - - - EPHA2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2826-9G>A r.spl p.? Unknown - likely pathogenic (dominant) g.16451824C>T g.16125329C>T - - EPHA2_000048 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam20Pat21514 PubMed: Guo 2025 family, several affected M - China - - - - - 2 Johan den Dunnen
+?/. - c.2826-9G>A r.spl p.? Unknown - likely pathogenic (dominant) g.16451824C>T g.16125329C>T - - EPHA2_000048 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam20Pat21560 PubMed: Guo 2025 relative F - China - - - - - 1 Johan den Dunnen
+?/. - c.2826-9G>A r.spl p.? Unknown - likely pathogenic (dominant) g.16451824C>T g.16125329C>T - - EPHA2_000048 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam58Pat961 PubMed: Guo 2025 family, several affected M - China - - - - - 2 Johan den Dunnen
+?/. - c.2842G>A r.(?) p.(Gly948Arg) Unknown - likely pathogenic g.16451799C>T g.16125304C>T - - EPHA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 17 c.2870G>C r.(?) p.(Arg957Pro) Paternal (confirmed) - likely pathogenic g.16451771C>G g.16125276C>G - - EPHA2_000002 - - - - Germline yes - - - - DNA SEQ - - CTRCT - - - M no China - - - - - 1 Zongfu Cao
-/. - c.2874C>T r.(?) p.(Ile958=) Unknown - benign g.16451767G>A g.16125272G>A EPHA2(NM_004431.5):c.2874C>T (p.I958=) - EPHA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2874C>T r.(?) p.(Ile958=) Unknown - likely benign g.16451767G>A g.16125272G>A - - EPHA2_000003 - PubMed: Li 2019 - rs3754334 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
?/. - c.2875G>A r.(?) p.(Ala959Thr) Unknown - VUS g.16451766C>T g.16125271C>T EPHA2(NM_004431.4):c.2875G>A (p.A959T) - EPHA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2904G>C r.(?) p.(Gln968His) Unknown - likely benign g.16451737C>G g.16125242C>G EPHA2(NM_004431.4):c.2904G>C (p.Q968H) - EPHA2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2919G>A r.(?) p.(Gly973=) Unknown - benign g.16451722C>T g.16125227C>T EPHA2(NM_004431.4):c.2919G>A (p.G973=) - EPHA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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